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:molybdenum cofactor deficiency
go back to main search page
Accession:DOID:0111165 term browser browse the term
Definition:A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (DO)
Synonyms:exact_synonym: MOCOD;   combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
 primary_id: MESH:C535811
 alt_id: RDO:0001121
 xref: GARD:3705;   MIM:PS252150;   NCI:C129076;   ORDO:99732


show annotations for term's descendants           Sort by:
molybdenum cofactor deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar PMID:25741868 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Molybdenum cofactor deficiency		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar PMID:10053004 PMID:16021469 PMID:16199547 PMID:21031595 PMID:25709896 More... NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:25741868 NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO
ISS		 ClinVar Annotator: match by term: MOCS1-related condition | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A
OMIM:252150
DNA:deletion:exon:722delT, 1523delAG (human)
DNA:missense mutations, splice site mutation, frameshift mutation: :multiple		 ClinVar
MouseDO
OMIM
RGD		 PMID:921896 PMID:7660932 PMID:9536098 PMID:9634514 PMID:9731530 More... RGD:1558665, RGD:1600439, RGD:1624402 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:11746050 PMID:21031595 PMID:25741868 PMID:28492532 NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B ClinVar PMID:25741868 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790 		JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO
ISS		 ClinVar Annotator: match by term: MOCS2-related condition | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B
OMIM:252160
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1427786 PMID:9459218 PMID:9536098 PMID:10053003 PMID:10053004 More... NCBI chr 2:46,504,588...46,516,327
Ensembl chr 2:46,504,588...46,516,324 		JBrowse link
molybdenum cofactor deficiency type C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11095995 PMID:12684523 PMID:12754701 PMID:16199547 More... NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Nutritional and Metabolic Diseases 8548
      disease of metabolism 8548
        inherited metabolic disorder 6627
          metal metabolism disorder 249
            molybdenum cofactor deficiency 5
              molybdenum cofactor deficiency type A 4
              molybdenum cofactor deficiency type B 3
              molybdenum cofactor deficiency type C 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          inherited metabolic disorder 6627
            metal metabolism disorder 249
              molybdenum cofactor deficiency 5
                molybdenum cofactor deficiency type A 4
                molybdenum cofactor deficiency type B 3
                molybdenum cofactor deficiency type C 1
paths to the root