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:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A Kurdish family had two children affected with
Robinow syndrome
. The daughter had short stature, macrocephaly, hypertelorism,
hepatosplenomegaly
, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges,
hepatosplenomegaly
, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).
...
PMID:Robinow syndrome in two siblings from consanguineous parents. 150 78
