Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Query: UMLS:C0028754 (
obesity
)
124,988
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An 8-year-old boy with
partial trisomy 14q
and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and
obesity
. Imprinting of maternal chromosome 14 or disruption of one or more genes on chromosome 9 may be responsible for our patient's manifestations.
...
PMID:Unusual phenotype in partial trisomy 14. 1058 32
