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spermatogenic failure 9

Summary
Synonym
  • globozoospermia
  • male infertility due to round-headed spermatozoa
Definition
A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.
Super Class
autosomal recessive disease male infertility due to globozoospermia
Disease Ontology
DOID:0111156
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
283417 DPY19L2 dpy-19 like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
320752 Dpy19l2 dpy-19 like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
300461 Dpy19l2 dpy-19 like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
32854 CG6659 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
368327 dpy19l1l dpy-19-like 1, like (H. sapiens)
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100485357 dpy19l1 dpy-19 like C-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
191628 dpy-19 C-mannosyltransferase dpy-19
The Human Phenotype Ontology
Displaying all 4 entries
HPO ID HPO Term
HP:0003251 Male infertility
HP:0012205 Globozoospermia
HP:0000007 Autosomal recessive inheritance
HP:0011462 Young adult onset
Displaying 1 entry
Gene ID Gene Symbol Description
283417 DPY19L2 dpy-19 like 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024