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Items: 7

1.

Spermatogenic failure 2

Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
400056
Concept ID:
C1862459
Finding
2.

46,XY sex reversal 5

MedGen UID:
414349
Concept ID:
C2751317
Disease or Syndrome
3.

Spermatogenic failure 15

Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. [from MONDO]

MedGen UID:
934746
Concept ID:
C4310779
Disease or Syndrome
4.

Spermatogenic failure 14

Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. [from MONDO]

MedGen UID:
862891
Concept ID:
C4014454
Disease or Syndrome
5.

Spermatogenic failure 13

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. [from MONDO]

MedGen UID:
862886
Concept ID:
C4014449
Disease or Syndrome
6.

Spermatogenic failure 77

Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1824018
Concept ID:
C5774245
Disease or Syndrome
7.

Abnormal circulating luteinizing hormone concentration

An anomaly of the circulating level of luteinizing hormone (LH). [from HPO]

MedGen UID:
663319
Concept ID:
C0580438
Finding
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