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1.

Neu-Laxova syndrome

Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004). Genetic Heterogeneity of Neu-Laxova Syndrome NLS2 (616038) is caused by mutation in the PSAT1 gene (610936) on chromosome 9q21. [from OMIM]

MedGen UID:
78537
Concept ID:
C0265218
Disease or Syndrome
2.

Plague

Plague is a severe bacterial infection caused by the Gram-negative bacterium <i>Yersinia pestis</i>. [from ORDO]

MedGen UID:
10785
Concept ID:
C0032064
Disease or Syndrome

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