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Items: 10

1.

Dyskeratosis

MedGen UID:
90742
Concept ID:
C0334061
Pathologic Function
2.

Hereditary benign intraepithelial dyskeratosis

Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease's nickname of 'red eye.' Morphologically, the lesions consist of a dyskeratotic hyperplastic epithelium. The oral lesions, which are typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane (summary by Witkop et al., 1960; Reed et al., 1979; and Baroni et al., 2009). [from OMIM]

MedGen UID:
75588
Concept ID:
C0265966
Disease or Syndrome
3.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
4.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
5.

Autosomal dominant inheritance

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
6.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
7.

Family health status

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. [from MeSH]

MedGen UID:
109024
Concept ID:
C0600220
Finding
8.

Disorder of eye region

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
9.

Disorder of conjunctiva

Any disorder of the conjunctiva. [from NCI]

MedGen UID:
3207
Concept ID:
C0009759
Disease or Syndrome
10.

Cytogenetic Abnormality

An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. [from NCI]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
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