eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| molybdenum cofactor deficiency | ||||
| Disease ID | 1934 |
|---|---|
| Disease | molybdenum cofactor deficiency |
| Definition | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [HPO:probinson] |
| Synonym | combined molybdoflavoprotein enzyme deficiency combined molybdoflavoprotein enzyme deficiency (disorder) combined xanthine oxidase and aldehyde oxidase deficiency combined xanthine oxidase and aldehyde oxidase deficiency (disorder) combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency deficiency of molybdenum cofactor hereditary xanthinuria type 2 hereditary xanthinuria, type 2 sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of xanthine oxidase-sulfite oxidase deficiency xanthine oxidase-sulphite oxidase deficiency |
| OMIM | |
| UMLS | C0268119 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1934 |
|---|---|
| Disease | molybdenum cofactor deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1934 |
|---|---|
| Disease | molybdenum cofactor deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| MOCS2 | Het del exon 3–5 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1934 |
|---|---|
| Disease | molybdenum cofactor deficiency |
| Case | (Waiting for update.) |