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:C0019158 (
hepatitis
)
30,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Johanson-Blizzard syndrome (JBS)
; (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (
hepatitis
and anemia) in a molecularly confirmed case of
JBS
.
...
PMID:Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype. 2405 74
