WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070599 X-linked spermatogenic failure 8 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.

1 Ontology

Name
Disease Ontology

10 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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
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:0070599 X-linked spermatogenic failure 8 A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111910 DOID:0070599
is_a DOID:0050735 DOID:0070599
is_a DOID:630 DOID:0070599
is_a DOID:0050177 DOID:0070599
is_a DOID:12336 DOID:0070599
is_a DOID:48 DOID:0070599
is_a DOID:15 DOID:0070599
is_a DOID:4 DOID:0070599
is_a DOID:7 DOID:0070599

1 Synonyms

Name Type
SPGFX8 synonym