WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070182 spermatogenic failure 13 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.

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:0070182 spermatogenic failure 13 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0070182
is_a DOID:0111910 DOID:0070182
is_a DOID:7 DOID:0070182
is_a DOID:0050739 DOID:0070182
is_a DOID:630 DOID:0070182
is_a DOID:0050177 DOID:0070182
is_a DOID:4 DOID:0070182
is_a DOID:48 DOID:0070182
is_a DOID:15 DOID:0070182
is_a DOID:12336 DOID:0070182

1 Synonyms

Name Type
SPGF13 synonym