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1.

Lowe syndrome

Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years. [from GTR]

MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
2.

Visual impairment

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. [from HPO]

MedGen UID:
777085
Concept ID:
C3665347
Finding
3.

Obsessional thoughts

MedGen UID:
115928
Concept ID:
C0233697
Mental or Behavioral Dysfunction
4.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
6.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
7.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
8.

Irritability

Feelings of annoyance, impatience, and anger. [from NCI]

MedGen UID:
397841
Concept ID:
C2700617
Mental Process
9.

Cataract

MedGen UID:
368085
Concept ID:
C1962983
Finding
10.

Congenital cataract

MedGen UID:
330823
Concept ID:
C1842324
11.

Impairment

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
12.

Cognitive impairment

Abnormality in the process of thought including the ability to process information. [from HPO]

MedGen UID:
151917
Concept ID:
C0683322
Mental or Behavioral Dysfunction
13.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
14.

Cognitive impairment

A notable change in cognitive function. [from NCI]

MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
15.

Frequent

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

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
16.

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
17.

Renal tubular dysfunction

disease of the kidney structure called tubule [from CHV]

MedGen UID:
57484
Concept ID:
C0151747
Disease or Syndrome
18.

Visual impairment

Reduced ability to perceive visual stimuli. [from NCI]

MedGen UID:
22663
Concept ID:
C0042798
Disease or Syndrome; Finding
19.

Stereotypy

A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. [from HPO]

MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
20.

Stereotyped behaviors

A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. [from HPO]

MedGen UID:
21318
Concept ID:
C0038271
Mental or Behavioral Dysfunction
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