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Items: 1 to 20 of 38

1.

Retinal degeneration

A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. [from HPO]

MedGen UID:
48432
Concept ID:
C0035304
Finding; Pathologic Function
2.

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:
892935
Concept ID:
C4020875
Pathologic Function
3.

Corneal clouding

A reduction of corneal clarity. [from HPO]

MedGen UID:
636782
Concept ID:
C0521719
Disease or Syndrome
4.

Cognitive 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:
351243
Concept ID:
C1864897
Finding
5.

Motor retardation

Abnormally slow physical movement. [from NCI]

MedGen UID:
98405
Concept ID:
C0424230
Finding
6.

Corneal opacity

A reduction of corneal clarity. [from HPO]

MedGen UID:
40485
Concept ID:
C0010038
Finding
7.

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
Organic Chemical; Pharmacologic Substance; Vitamin
8.

Mucolipidosis

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [from NCI]

MedGen UID:
7731
Concept ID:
C0026697
Disease or Syndrome
9.

Degenerative abnormality

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
10.

Truncal ataxia

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. [from HPO]

MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
11.

Atrophy

Any weakening or degeneration, especially through lack of use. [from NCI]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
12.

Optic atrophy

A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. [from NCI]

MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
13.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
14.

Mucopolysaccharidosis

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. [from NCI]

MedGen UID:
7733
Concept ID:
C0026703
Disease or Syndrome
15.

Cellular metachromasia

Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. [from HPO]

MedGen UID:
871114
Concept ID:
C4025583
Finding
16.

Undetectable electroretinogram

Lack of any response to stimulation upon electroretinography. [from HPO]

MedGen UID:
383742
Concept ID:
C1855685
Finding
17.

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [from HPO]

MedGen UID:
346841
Concept ID:
C1858120
Finding
18.

Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [from HPO]

MedGen UID:
326544
Concept ID:
C1839630
Finding
19.

Muscular hypotonia

A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. [from NCI]

MedGen UID:
10133
Concept ID:
C0026827
Finding; Finding
20.

Spasticity

A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) [from MeSH]

MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
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