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Items: 15

1.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
2.

Ichthyosis prematurity syndrome

Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome. [from GTR]

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
3.

Immune

Protected against infectious disease by either specific or non-specific mechanisms.(On-line Medical Dictionary) [from NCI]

MedGen UID:
98553
Concept ID:
C0439662
Finding
4.

Chikungunya fever

An acute infection caused by a mosquito-borne alphavirus CHIKUNGUNYA VIRUS characterized by RASH; FEVER; JOINT PAINS; CONJUNCTIVITIS; MENINGOENCEPHALITIS; LYMPHOPENIA; and THROMBOCYTOPENIA. [from MeSH]

MedGen UID:
3362
Concept ID:
C0008055
Disease or Syndrome
5.

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
6.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
7.

RNA Synthesis

Used to denote the transcription of DNA into RNA. The biochemical machinery includes sequence-specific DNA binding proteins that directly act in the regulation of the transcription process, other protein factors that participate in the assembly of the transcription complex, and RNA polymerase. [from NCI]

MedGen UID:
272243
Concept ID:
C1328948
Molecular Function
8.

Interferon

Human interferons have been classified into 3 groups: alpha, beta, and gamma. Both alpha- and beta-IFNs, previously designated type I, are acid-stable, but they differ immunologically and in regard to some biologic and physiochemical properties. The IFNs produced by virus-stimulated leukocytes (leukocyte IFNs) are predominantly of the alpha type. Those produced by lymphoblastoid cells are about 90% alpha and 10% beta. Induced fibroblasts produce mainly or exclusively the beta type. The alpha- and beta-IFNs differ widely in amino acid sequence. The gamma or immune IFNs, which are produced by T lymphocytes in response to mitogens or to antigens to which they are sensitized, are acid-labile and serologically distinct from alpha- and beta-IFNs. (from OMIM 147570) [from NCI]

MedGen UID:
196514
Concept ID:
C0733470
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
9.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
10.

Signaling Pathway

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
11.

Interferon

Proteins secreted by vertebrate cells in response to a wide variety of inducers. They confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions. [from MeSH]

MedGen UID:
5847
Concept ID:
C0021747
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
12.

Biosynthesis, Peptide

The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules. [from MeSH]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
13.

Fiblaferon

A non-recombinant from of Interferon-beta. [from MeSH]

MedGen UID:
196534
Concept ID:
C0733567
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
14.

Interferon Type I

Interferon secreted by leukocytes, fibroblasts, or lymphoblasts in response to viruses or interferon inducers other than mitogens, antigens, or allo-antigens. They include alpha- and beta-interferons (INTERFERON-ALPHA and INTERFERON-BETA). [from MeSH]

MedGen UID:
9509
Concept ID:
C0021743
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
15.

Interferon beta

A class of interferon elaborated by fibroblasts. [from NCI]

MedGen UID:
5171
Concept ID:
C0015980
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
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