WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070178 spermatogenic failure 10 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.

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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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: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:0070178 spermatogenic failure 10 A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111910 DOID:0070178
is_a DOID:0050736 DOID:0070178
is_a DOID:4 DOID:0070178
is_a DOID:630 DOID:0070178
is_a DOID:12336 DOID:0070178
is_a DOID:48 DOID:0070178
is_a DOID:15 DOID:0070178
is_a DOID:0050739 DOID:0070178
is_a DOID:0050177 DOID:0070178
is_a DOID:7 DOID:0070178

2 Synonyms

Name Type
SPGF10 synonym
Spermatogenic failure with defective sperm annulus synonym