WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070183 spermatogenic failure 5 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.
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1 Ontology

Name
Disease Ontology

11 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:48 male reproductive system disease A reproductive system disease that affects male reproductive organs.
DOID:15 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:12336 male infertility  
DOID:0111910 spermatogenic failure A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.
DOID:0070183 spermatogenic failure 5 A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.

10 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0111910 DOID:0070183
is_a DOID:0050737 DOID:0070183
is_a DOID:12336 DOID:0070183
is_a DOID:0050739 DOID:0070183
is_a DOID:7 DOID:0070183
is_a DOID:630 DOID:0070183
is_a DOID:0050177 DOID:0070183
is_a DOID:4 DOID:0070183
is_a DOID:48 DOID:0070183
is_a DOID:15 DOID:0070183

6 Synonyms

Name Type
Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid synonym
infertility associated with multitailed spermatozoa and excessive DNA synonym
macrocephalic sperm head syndrome synonym
male infertility due to macrozoospermia synonym
male infertility with large-headed, multiflagellar, polyploid spermatozoa synonym
SPGF5 synonym