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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   riboflavin deficiency
  

Disease ID 1089
Disease riboflavin deficiency
Definition
A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)
Synonym
ariboflavinosis
ariboflavinosis (disorder)
b2 deficiencies vitamin
b2 deficiency vitamin
defic riboflavin
deficiencies, riboflavin
deficiency riboflavin
deficiency, riboflavin
rbfvd
riboflavin defic
riboflavin deficiencies
riboflavin deficiency [disease/finding]
riboflavine deficiency
vitamin b2 deficiency
OMIM
DOID
ICD10
UMLS
C0035528
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0031117  |  peripheral neuropathy  |  1
C0442874  |  neuropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
55065  |  SLC52A1  |  CLINVAR;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:10)
1528  |  CYB5A  |  3.3  |  DISEASES
2042  |  EPHA3  |  3.28  |  DISEASES
2149  |  F2R  |  2.796  |  DISEASES
3146  |  HMGB1  |  2.048  |  DISEASES
3303  |  HSPA1A  |  2.444  |  DISEASES
4524  |  MTHFR  |  1.356  |  DISEASES
5950  |  RBP4  |  2.43  |  DISEASES
7018  |  TF  |  1.126  |  DISEASES
7099  |  TLR4  |  1.279  |  DISEASES
10333  |  TLR6  |  3.094  |  DISEASES
Locus(Waiting for update.)
Disease ID 1089
Disease riboflavin deficiency
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
Disease ID 1089
Disease riboflavin deficiency
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0221264  |  cheilosis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
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 1089
Disease riboflavin deficiency
Case(Waiting for update.)