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Results: 1 to 20 of 68

1.

Head & Shoulders brand of selenium disulfide

MedGen UID:
280641
Concept ID:
C1531398
Pharmacologic Substance
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Ganglioside sialidase deficiency

Mucolipidosis IV is characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. By the end of the first decade of life and certainly by their early teens, all individuals with typical mucolipidosis IV have severe visual impairment as a result of retinal degeneration. Neurodegeneration is thought to occur in no more than 15% of individuals. About 5% of individuals have atypical mucolipidosis IV, often manifest as less severe psychomotor retardation and/or eye findings. About 70% of individuals with mucolipidosis IV are of Ashkenazi Jewish heritage. [from GeneReviews]

MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
4.

Mucolipidosis

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) [from MeSH]

MedGen UID:
7731
Concept ID:
C0026697
Disease or Syndrome
5.

Visual impairment

Limitation in visual functions. [from MeSH]

MedGen UID:
777085
Concept ID:
C3665347
Finding
6.

Error occurred: cannot get document summary

ID:
483656

7.

Misdiagnosis

Incorrect conclusion as to source or cause of illness. [from MeSH]

MedGen UID:
146837
Concept ID:
C0679838
Finding
8.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
9.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
10.

Cerebral palsy

Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. . Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile, or walk. Some babies are born with cerebral palsy; others get it after they are born. . There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
11.

disease

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
12.

Error occurred: cannot get document summary

ID:
506891

13.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
14.

Cerebral palsy

Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. [from HPO]

MedGen UID:
451416
Concept ID:
CN116920
Finding
15.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
16.

Progressive visual loss

MedGen UID:
355674
Concept ID:
C1866286
Finding
17.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
18.

Impairment

A loss of part or all of a physical or mental ability, such as the ability to see, walk, or learn. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
19.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
20.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082

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