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Results: 20

1.

Delavirdine

A potent, non-nucleoside reverse transcriptase inhibitor with activity specific for HIV-1. [from MeSH]

MedGen UID:
129597
Concept ID:
C0288165
Pharmacologic Substance
2.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
3.

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
4.

Immunodeficiency disorder

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from MeSH]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
5.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
6.

Rett's disorder

MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A MECP2 mutation in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 mutations are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males. [from GeneReviews]

MedGen UID:
48441
Concept ID:
C0035372
Disease or Syndrome
7.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation. [from GeneReviews]

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
8.

Molecular Mechanisms of Pharmacological Action

Pharmacological activities at the molecular level of DRUGS and other exogenous compounds that are used to treat DISEASES and affect normal BIOCHEMISTRY. [from MeSH]

MedGen UID:
226255
Concept ID:
C1258062
Molecular Function
9.

Antimicrobial substance

Any substance or process that kills germs (bacteria, viruses, and other microorganisms that can cause infection and disease). [from NCI]

MedGen UID:
209727
Concept ID:
C1136254
Pharmacologic Substance
10.

U-90152

MedGen UID:
196442
Concept ID:
C0729180
Pharmacologic Substance
11.

Rescriptor

MedGen UID:
147070
Concept ID:
C0699884
Pharmacologic Substance
12.

Nucleic Acid Synthesis Inhibitors

Compounds that inhibit cell production of DNA or RNA. [from MeSH]

MedGen UID:
138218
Concept ID:
C0376568
Pharmacologic Substance
13.

Anti-Retroviral Agents

Agents used to treat RETROVIRIDAE INFECTIONS. [from MeSH]

MedGen UID:
109361
Concept ID:
C0599685
Pharmacologic Substance
14.

Anti-HIV Agents

Agents used to treat AIDS and/or stop the spread of the HIV infection. These do not include drugs used to treat symptoms or opportunistic infections associated with AIDS. [from MeSH]

MedGen UID:
91269
Concept ID:
C0376565
Pharmacologic Substance
15.

Reverse Transcriptase Inhibitors

Any substance that inhibits the activity of viral reverse transcriptase, an RNA-dependent DNA polymerase that transcribes viral RNA into DNA during virus replication. [from NCI]

MedGen UID:
79467
Concept ID:
C0282519
Pharmacologic Substance
16.

VP-2

MedGen UID:
57339
Concept ID:
C0148584
Pharmacologic Substance
17.

Enzyme Inhibitors

compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. [from CRISP]

MedGen UID:
8652
Concept ID:
C0014432
Pharmacologic Substance
18.

Indole

bicyclic nitrogenous heterocyclic compounds. [from CRISP]

MedGen UID:
5785
Concept ID:
C0021236
Pharmacologic Substance
19.

Antiviral Agents

Antiviral agents that have a non-specific classification. [from NCI]

MedGen UID:
356
Concept ID:
C0003451
Pharmacologic Substance
20.

Anti-Infective Agents

Substances that prevent infectious agents or organisms from spreading or kill infectious agents in order to prevent the spread of infection. (MeSH) [from NCI]

MedGen UID:
324
Concept ID:
C0003204
Pharmacologic Substance

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