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Items: 1 to 20 of 43

1.

Periodic alternating nystagmus

MedGen UID:
75747
Concept ID:
C0271382
Disease or Syndrome
2.

Periodic

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
3.

Nystagmus

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. [from HPO]

MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
4.

Idiopathic infantile nystagmus

MedGen UID:
833007
Concept ID:
CN228588
Disease or Syndrome
5.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
6.

Not detected

The presence of the specified component / analyte, organism or clinical sign could not be determined within the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617736
Concept ID:
C0442737
Finding
7.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
8.

Vesicle

A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin [from SNOMEDCT_US]

MedGen UID:
568991
Concept ID:
C0333262
Disease or Syndrome
9.

Normal tissue

MedGen UID:
568338
Concept ID:
C0332441
Finding
10.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from OMIM]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
11.

Infantile Nystagmus

MedGen UID:
388733
Concept ID:
C2673809
Finding
12.

Nystagmus 5, congenital, X-linked

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). [from OMIM]

MedGen UID:
375583
Concept ID:
C1845116
Disease or Syndrome
13.

Nystagmus 3, congenital, autosomal dominant

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). [from OMIM]

MedGen UID:
374873
Concept ID:
C1842186
Disease or Syndrome
14.

Nystagmus 4, congenital, autosomal dominant

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). [from OMIM]

MedGen UID:
348103
Concept ID:
C1860433
Disease or Syndrome
15.

Infantile nystagmus, X-linked

FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. The eyes are structurally normal and electrophysiologic studies, such as visual evoked potential (VEP) and electroretinogram (ERG), are normal. Affected females report slightly better visual acuity than affected males; however, no differences between males and females in the amplitude, frequency, and waveform of nystagmus are observed. [from GeneReviews]

MedGen UID:
333352
Concept ID:
C1839580
Disease or Syndrome
16.

Nystagmus 2, congenital, autosomal dominant

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). [from OMIM]

MedGen UID:
331657
Concept ID:
C1834079
Disease or Syndrome
17.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
18.

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
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Opsoclonus

Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. [from HPO]

MedGen UID:
116616
Concept ID:
C0242567
Disease or Syndrome
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