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:C0014848 (
achalasia
)
2,804
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
On account of a recently developed
tinnitus
, a young woman with the characteristic features of Klein-Waardenburg's syndrome (impairment of hearing, partial albinism, telecanthus) was hospitalised. The mother and the sister of the patient were also affected by the syndrome, albeit to a lesser degree. The otological aspects of the disease are described. Additionally, the possible association of this genetically determined disorder with certain other diseases, such as
achalasia
, Hirschsprung's disease or immunodeficiency, is discussed.
...
PMID:[Klein-Waardenburg syndrome. Report of 3 cases in a family with a review of the literature]. 401 Apr 6