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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   keratomalacia
  

Disease ID 1915
Disease keratomalacia
Definition
dryness with ulceration and perforation of the cornea, with absence of inflammatory reactions, occurring in cachectic children; results from severe vitamin A deficiency.
Synonym
keratomalacia (disorder)
keratomalacia nos
keratomalacia nos (disorder)
keratomalacia, nos
DOID
UMLS
C0152455
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0010043  |  corneal ulcer  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5950  |  RBP4  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:3)
5053  |  PAH  |  3.064  |  DISEASES
5950  |  RBP4  |  2.669  |  DISEASES
7018  |  TF  |  1.366  |  DISEASES
Locus(Waiting for update.)
Disease ID 1915
Disease keratomalacia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0012804  |  Corneal ulceration  |  1
HP:0100699  |  Scarring  |  1
Disease ID 1915
Disease keratomalacia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0162429  |  malnutrition
C0033626  |  protein deficiency
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 1915
Disease keratomalacia
Case(Waiting for update.)