Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022568 (
keratitis
)
5,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An infant with congenital ichthyosis and deafness developed Hirschsprung's disease. No evidence of
keratitis
was present. No previous cases of ichthyosis have been associated with aganglionic
megacolon
. Although no corneal changes were observed, we believe that the clinical features of ichthyosis and deafness suggest the diagnosis of KID (
keratitis
, ichthyosis, deafness) syndrome. Whether corneal changes would have occurred is unknown, since the infant died of malnutrition and infectious complications.
...
PMID:Ichthyosis, deafness, and Hirschsprung's disease. 270 59
