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1.

Kindler syndrome

Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (which is most prominent during childhood and usually decreases after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, esophageal strictures/stenosis, anal stenosis, colitis, urethral stenosis/strictures, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe. [from GTR]

MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
2.

Atrophy

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

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

Phimosis

A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening. [from MeSH]

MedGen UID:
45872
Concept ID:
C0031538
Finding
4.

Syndrome

A characteristic symptom complex. [from MeSH]

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

Segregation analysis

MedGen UID:
880236
Concept ID:
CN235624
Finding
6.

Acral

Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). [from HPO]

MedGen UID:
615216
Concept ID:
C0439746
Spatial Concept
7.

Fragility

MedGen UID:
549780
Concept ID:
C0302113
Cell or Molecular Dysfunction
8.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
9.

Severe periodontitis

A severe form of periodontitis. [from HPO]

MedGen UID:
504376
Concept ID:
CN000162
Finding
10.

Palmoplantar hyperkeratosis

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

MedGen UID:
500897
Concept ID:
CN000910
Finding
11.

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:
451011
Concept ID:
C0241054
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:
412159
Concept ID:
C2132198
Finding
13.

History

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
14.

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:
353811
Concept ID:
C1708511
Genetic Function
15.

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:
209030
Concept ID:
C0870082
Disease or Syndrome
16.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
17.

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
18.

Poikiloderma

A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.(NICHD) [from NCI]

MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
19.

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:
87601
Concept ID:
C0349506
Finding; Pathologic Function
20.

Phimosis

Phimosis that is present since birth. [from NCI]

MedGen UID:
87496
Concept ID:
C0345326
Congenital Abnormality
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