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Results: 1 to 20 of 24

1.

Picrotoxin

A noncompetitive antagonist at GABA-A receptors and thus a convulsant. Picrotoxin blocks the GAMMA-AMINOBUTYRIC ACID-activated chloride ionophore. Although it is most often used as a research tool, it has been used as a CNS stimulant and an antidote in poisoning by CNS depressants, especially the barbiturates. [from MeSH]

MedGen UID:
18473
Concept ID:
C0031890
Pharmacologic Substance
2.

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
3.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
4.

Oromandibular-limb hypogenesis spectrum

The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings. [from OMIM]

MedGen UID:
66357
Concept ID:
C0221060
Disease or Syndrome
5.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Affected children are delayed in sitting and most never walk. Within the first few years, extrapyramidal involvement (e.g., dystonia, choreoathetosis, opisthotonos) and pyramidal involvement (e.g., spasticity, hyperreflexia, extensor plantar reflexes) become evident. Cognitive impairment and behavioral disturbances emerge between ages two and three years. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Gouty arthritis may occur later in the disease. Related disorders with less severe manifestations include hyperuricemia with neurologic dysfunction but no self-injurious behavior and hyperuricemia alone, sometimes with acute renal failure. [from GeneReviews]

MedGen UID:
9721
Concept ID:
C0023374
Disease or Syndrome
6.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
7.

Aminobutyrates

Derivatives of BUTYRIC ACID that contain one or more amino groups attached to the aliphatic structure. Included under this heading are a broad variety of acid forms, salts, esters, and amides that include the aminobutryrate structure. [from MeSH]

MedGen UID:
473507
Concept ID:
C1979618
Pharmacologic Substance
8.

Medebiotin

MedGen UID:
304280
Concept ID:
C1449820
Pharmacologic Substance
9.

Rombellin

MedGen UID:
304279
Concept ID:
C1449819
Pharmacologic Substance
10.

Gabunat

MedGen UID:
304278
Concept ID:
C1449817
Pharmacologic Substance
11.

Biokur

MedGen UID:
260618
Concept ID:
C1449813
Pharmacologic Substance
12.

Biodermatin

MedGen UID:
260617
Concept ID:
C1449812
Pharmacologic Substance
13.

Biotin-ratiopharm

MedGen UID:
259594
Concept ID:
C1449821
Pharmacologic Substance
14.

medobiotin

MedGen UID:
258566
Concept ID:
C1449818
Pharmacologic Substance
15.

Deacura

MedGen UID:
258565
Concept ID:
C1449816
Pharmacologic Substance
16.

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
17.

Gammalon

MedGen UID:
147623
Concept ID:
C0733457
Pharmacologic Substance
18.

Neurotransmitter Agents

Substances used for their pharmacological actions on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. [from MeSH]

MedGen UID:
69321
Concept ID:
C0243051
Pharmacologic Substance
19.

GABA receptor antagonist

Drugs that bind to but do not activate GABA RECEPTORS, thereby blocking the actions of endogenous GAMMA-AMINOBUTYRIC ACID and GABA RECEPTOR AGONISTS. [from MeSH]

MedGen UID:
67021
Concept ID:
C0242975
Pharmacologic Substance
20.

GABA Agents

Substances used for their pharmacological actions on GABAergic systems. GABAergic agents include agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function. [from MeSH]

MedGen UID:
67004
Concept ID:
C0242898
Pharmacologic Substance

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