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Items: 12

1.

Azoospermia

Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. [from HPO]

MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
2.

Infertility disorder

Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. [from NCI]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Finding
3.

Male infertility

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. [from MONDO]

MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
4.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
5.

Non-obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [from HPO]

MedGen UID:
866757
Concept ID:
C4021107
Disease or Syndrome
6.

Obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [from HPO]

MedGen UID:
868703
Concept ID:
C4023106
Disease or Syndrome
7.

Male infertility due to obstructive azoospermia

MedGen UID:
1843059
Concept ID:
C5680348
Disease or Syndrome
8.

Abnormal circulating threonine concentration

Any deviation from the normal concentration of threonine in the blood circulation. [from HPO]

MedGen UID:
869243
Concept ID:
C4023666
Finding
9.

Abnormality of reproductive system physiology

An abnormal functionality of the genital system. [from HPO]

MedGen UID:
892582
Concept ID:
C4021820
Pathologic Function
10.

Abnormal circulating serine concentration

Any deviation from the normal concentration of serine in the blood circulation. [from HPO]

MedGen UID:
1684741
Concept ID:
C5139064
Finding
11.

Abnormal testis morphology

An anomaly of the testicle (the male gonad). [from HPO]

MedGen UID:
1684851
Concept ID:
C4759656
Anatomical Abnormality
12.

Male infertility with azoospermia or oligozoospermia due to single gene mutation

A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. [from ORDO]

MedGen UID:
1842653
Concept ID:
C5681165
Disease or Syndrome
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