spermatogenic failure 31 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	spermatogenic failure 31	go back to main search page
Accession:	DOID:0111922	browse the term
Definition:	A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. (DO)
Synonyms:	exact_synonym:	CYBA Deficiency; SPGF31
	primary_id:	OMIM:618112

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Genes (2)

spermatogenic failure 31

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyba

cytochrome b-245 alpha chain

ISO

ClinVar Annotator: match by term: CYBA DEFICIENCY

ClinVar

PMID:3368442 PMID:9445163 PMID:10440830 PMID:10910929 PMID:19388116 More...

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

Pmfbp1

polyamine modulated factor 1 binding protein 1

ISO
ISS

ClinVar Annotator: match by term: Spermatogenic failure 31
OMIM:618112

OMIM
ClinVar
MouseDO

PMID:25741868 PMID:30032984 PMID:30298696

NCBI chr19:37,458,126...37,507,880
Ensembl chr19:37,458,108...37,507,879

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of anatomical entity	18249
reproductive system disease	3011
male reproductive system disease	2008
male infertility	305
spermatogenic failure	173
male infertility due to acephalic spermatozoa	7
spermatogenic failure 31	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
Urogenital Diseases	5233
Female Urogenital Diseases and Pregnancy Complications	2457
Female Urogenital Diseases	2004
female reproductive system disease	2001
infertility	397
male infertility	305
spermatogenic failure	173
male infertility due to acephalic spermatozoa	7
spermatogenic failure 31	2

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS