WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111911 spermatogenic failure 34 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1.

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:0111911 spermatogenic failure 34 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0111911
is_a DOID:0111910 DOID:0111911
is_a DOID:4 DOID:0111911
is_a DOID:7 DOID:0111911
is_a DOID:12336 DOID:0111911
is_a DOID:48 DOID:0111911
is_a DOID:15 DOID:0111911
is_a DOID:0050177 DOID:0111911
is_a DOID:630 DOID:0111911
is_a DOID:0050739 DOID:0111911

1 Synonyms

Name Type
SPGF34 synonym