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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
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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;   NCI:C129076;   OMIM:PS252150;   ORDO:99732
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr 2:46,520,345...46,621,487
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
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:28492532 NCBI chr 2:46,504,574...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 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:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A
DNA:deletion:exon:722delT, 1523delAG (human)
DNA:missense mutations, splice site mutation, frameshift mutation: :multiple
ClinVar
OMIM
RGD
PMID:7660932 PMID:9536098 PMID:9634514 PMID:9731530 PMID:9921896 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:28492532 NCBI chr 2:46,504,574...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 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B OMIM
ClinVar
PMID:1427786 PMID:9536098 PMID:10053003 PMID:10053004 PMID:11746050 More... NCBI chr 2:46,504,574...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 Akap5 A-kinase anchoring protein 5 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
JBrowse link
G Churc1 churchill domain containing 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,464,488...95,485,208
Ensembl chr 6:95,470,683...95,619,586
JBrowse link
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fntb farnesyltransferase, CAAX box, beta ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,536,540...95,619,587
Ensembl chr 6:95,470,683...95,619,586
JBrowse link
G Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C OMIM
ClinVar
PMID:9536098 PMID:11095995 PMID:12684523 PMID:12754701 PMID:16199547 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Gpx2 glutathione peroxidase 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,493,589...95,496,877
Ensembl chr 6:95,493,589...95,496,877
JBrowse link
G Hspa2 heat shock protein family A (Hsp70) member 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,128,504...95,131,281
Ensembl chr 6:95,128,350...95,131,287
JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,636,857...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359
JBrowse link
G Ppp1r36 protein phosphatase 1, regulatory subunit 36 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,138,526...95,159,102
Ensembl chr 6:95,139,007...95,159,102
JBrowse link
G Rab15 RAB15, member RAS oncogene family ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,499,584...95,524,073
Ensembl chr 6:95,499,587...95,523,942
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
G Zbtb1 zinc finger and BTB domain containing 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,096,838...95,125,811
Ensembl chr 6:95,096,387...95,118,996
JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar PMID:11095995 PMID:28492532 NCBI chr 6:95,070,699...95,095,888
Ensembl chr 6:95,075,331...95,095,755
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          metal metabolism disorder 138
            molybdenum cofactor deficiency 20
              molybdenum cofactor deficiency type A 4
              molybdenum cofactor deficiency type B 2
              molybdenum cofactor deficiency type C 16
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            metal metabolism disorder 138
              molybdenum cofactor deficiency 20
                molybdenum cofactor deficiency type A 4
                molybdenum cofactor deficiency type B 2
                molybdenum cofactor deficiency type C 16
paths to the root