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Items: 7

1.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
2.

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 GTR]

MedGen UID:
78537
Concept ID:
C0265218
Disease or Syndrome
3.

Infection

The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce. [from NCI]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
4.

Leucine

An essential branched-chain amino acid important for hemoglobin formation. [from MeSH]

MedGen UID:
7312
Concept ID:
C0023401
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. [from MeSH]

MedGen UID:
403453
Concept ID:
C2717865
Disease or Syndrome
6.

Mediator of inflammation

The endogenous compounds that mediate inflammation (AUTACOIDS) and related exogenous compounds including the synthetic prostaglandins (PROSTAGLANDINS, SYNTHETIC). [from MeSH]

MedGen UID:
66209
Concept ID:
C0243042
Pharmacologic Substance
7.

VP-2

MedGen UID:
57339
Concept ID:
C0148584
Organic Chemical; Pharmacologic Substance
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