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1.

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age =35 years) and milder disease than do affected males. [from GeneReviews]

MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
2.

Color blindness

Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. . There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities. .  [from MedlinePlus]

MedGen UID:
116141
Concept ID:
C0242225
Disease or Syndrome
3.

Blindness

Blindness is the condition of lacking visual perception due to physiological or neurological factors. [from HPO]

MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome; Finding
4.

Abnormality of color vision

An anomaly in the ability to discriminate between or recognize colors. [from HPO]

MedGen UID:
3542
Concept ID:
C0009398
Disease or Syndrome
5.

Red-green dyschromatopsia

Difficulty with discriminating red and green hues. [from HPO]

MedGen UID:
410005
Concept ID:
C1970168
Finding
6.

Red-green dyschromatopsia

Difficulty with discriminating red and green hues. [from HPO]

MedGen UID:
342461
Concept ID:
C1850284
Finding
7.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
8.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
9.

Adrenomyeloneuropathy

MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
10.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
11.

Mental deficiency

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
12.

Mental Retardation, X-Linked

A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). [from MeSH]

MedGen UID:
211749
Concept ID:
C1136249
Disease or Syndrome
13.

Demyelinating Autoimmune Diseases, CNS

Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens. [from MeSH]

MedGen UID:
199756
Concept ID:
C0751873
Disease or Syndrome
14.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
15.

Autoimmune Diseases of the Nervous System

Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME). [from MeSH]

MedGen UID:
155946
Concept ID:
C0751871
Disease or Syndrome
16.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
17.

Hereditary Central Nervous System Demyelinating Diseases

Inherited conditions characterized by a loss of MYELIN in the central nervous system. [from MeSH]

MedGen UID:
148407
Concept ID:
C0751877
Disease or Syndrome
18.

Monochromatopsia

MedGen UID:
148222
Concept ID:
C0751043
Disease or Syndrome
19.

Disorder of peroxisomal function

A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. [from MeSH]

MedGen UID:
129185
Concept ID:
C0282528
Disease or Syndrome
20.

Neonatal adrenoleucodystrophy

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum comprising three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. In the newborn period, affected children are hypotonic, feed poorly, and have distinctive facies, seizures, and liver cysts with hepatic dysfunction. Bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones may occur. Infants with ZS are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction. The clinical courses of NALD and IRD are variable and may include developmental delays, hearing loss, vision impairment, liver dysfunction, episodes of hemorrhage, and intracranial bleeding. While some children can be very hypotonic, others learn to walk and talk. The condition is often slowly progressive. [from GeneReviews]

MedGen UID:
129184
Concept ID:
C0282525
Disease or Syndrome
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