Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Oocyte/Zygote/Embryo Maturation Arrest 11
go back to main search page
Accession:DOID:9004838 term browser browse the term
Definition:Characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Caused by homozygous mutation in the ASTL gene on chromosome 2q11.
Synonyms:exact_synonym: OOMD11;   OZEMA11;   Oocyte Maturation Defect 11
 primary_id: MIM:619643


show annotations for term's descendants           Sort by:
Oocyte/Zygote/Embryo Maturation Arrest 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTL astacin like metalloendopeptidase ISO ClinVar Annotator: match by term: Oocyte maturation defect 11 OMIM
ClinVar		 PMID:34704130 NCBI chr17:34,594,701...34,608,708
Ensembl chr17:34,594,026...34,607,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      reproductive system disease 3103
        female reproductive system disease 2127
          infertility 407
            Female Infertility 65
              Oocyte/Zygote/Embryo Maturation Arrest 11 1
Path 2
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      Urogenital Diseases 4922
        Female Urogenital Diseases and Pregnancy Complications 2603
          Female Urogenital Diseases 2130
            female reproductive system disease 2127
              infertility 407
                Female Infertility 65
                  Oocyte/Zygote/Embryo Maturation Arrest 11 1
paths to the root