Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 1 to 20 of 44

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.

Chromosomal Rearrangement

MedGen UID:
273151
Concept ID:
C1516520
Cell or Molecular Dysfunction
3.

Chromosomal structural abnormalities

Any change in the structure of one or more chromosomes. [from NCI]

MedGen UID:
271516
Concept ID:
C1515001
Cell or Molecular Dysfunction
4.

Profound

MedGen UID:
615266
Concept ID:
C0439808
5.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
6.

Retinal dystrophy

MedGen UID:
504495
Concept ID:
CN000522
Finding
7.

Cone monochromacy

The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. [from HPO]

MedGen UID:
489270
Concept ID:
CN167245
Finding
8.

Blue cone monochromacy

A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [from HPO]

MedGen UID:
429168
Concept ID:
CN006974
Finding
9.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
10.

Monochromacy

MedGen UID:
387862
Concept ID:
C1857589
Finding
11.

Retinal dystrophy

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. [from MeSH]

MedGen UID:
208903
Concept ID:
C0854723
Disease or Syndrome
12.

Cone monochromatism

Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005). [from OMIM]

MedGen UID:
87386
Concept ID:
C0339537
Disease or Syndrome
13.

Retinaldehyde

A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration. [from MeSH]

MedGen UID:
19764
Concept ID:
C0035331
Pharmacologic Substance
14.

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
15.

Adrenomyeloneuropathy

MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
16.

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
17.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
18.

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
19.

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
20.

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

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...