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:C0917816 (
mental retardation
)
15,867
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The Authors describe a case of CHARGE association (CA) with
fibrocystic disease of the pancreas
(
FCP
). The CA is characterized by seven mayor defects (colobomatous malformation, heart defect, atresia choanae, growth and
mental deficiency
, genital hypoplasia, ear anomalies and/or deafness). Four of this seven defects are necessary for the diagnosis. Other diseases and anomalies associated with CA are examined. The peculiarity of contemporaneous presence of
FCP
and the seriousness of the prognosis is pointed out.
...
PMID:[A case of CHARGE with fibrocystic disease of the pancreas]. 147 74
