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spermatogenic failure 58
Summary
- Synonym
-
- SPGF58
- Definition
- A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2.
- Super Class
- autosomal recessive disease spermatogenic failure
External Links
- Disease Ontology
- DOID:0112352
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96LB3 | Intraflagellar transport protein 74 homolog |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000027 | Azoospermia |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000118 | Phenotypic abnormality |
| HP:0011962 | Obstructive azoospermia |
