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Results: 1 to 20 of 47

1.

Kindler's syndrome

Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003). [from OMIM]

MedGen UID:
96060
Concept ID:
C0406557
Congenital Abnormality
2.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
3.

Phimosis

A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. [from NCI]

MedGen UID:
45872
Concept ID:
C0031538
Finding
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

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

Male gender

A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
7446
Concept ID:
C0024554
Finding
6.

Fragility

MedGen UID:
549780
Concept ID:
C0302113
Cell or Molecular Dysfunction
7.

Poikiloderma

Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. [from HPO]

MedGen UID:
504692
Concept ID:
CN000964
Finding
8.

Hyperkeratosis

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [from HPO]

MedGen UID:
504662
Concept ID:
CN000900
Finding
9.

Periodontitis

Inflammation of the periodontium. [from HPO]

MedGen UID:
504563
Concept ID:
CN000661
Finding
10.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
11.

Palmoplantar hyperkeratosis

Hyperkeratosis affecting the palm of the hand and the sole of the foot. [from HPO]

MedGen UID:
500897
Concept ID:
CN000910
Finding
12.

Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [from HPO]

MedGen UID:
428779
Concept ID:
CN007093
Finding
13.

Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. [from HPO]

MedGen UID:
428240
Concept ID:
CN000929
Finding
14.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
15.

Photoparoxysmal response 1

MedGen UID:
358382
Concept ID:
C1868677
Disease or Syndrome
16.

Hyperkeratosis

skin thickening caused by excessive production of a protein called keratins [from CHV]

MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
17.

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
18.

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
19.

Photogenic epilepsy

The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993). Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005). Genetic Heterogeneity of Photoparoxysmal Response The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32. [from OMIM]

MedGen UID:
98285
Concept ID:
C0393720
Disease or Syndrome
20.

Poikiloderma, NOS

MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome

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