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Items: 20

1.

Disease

Clinical entity defined by a set of phenotypic abnormalities resulting from a common physiopathological mechanism with a homogeneous evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies. [from ORDO]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
2.

Cork-handlers disease

An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. [from MONDO]

MedGen UID:
508891
Concept ID:
C0152108
Disease or Syndrome
3.

Posterior polymorphous corneal dystrophy 1

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [from MONDO]

MedGen UID:
343836
Concept ID:
C1852555
Disease or Syndrome
4.

Polymorphous corneal dystrophy

Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012). Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy Other forms of PPCD include PPCD2 (609140), caused by mutation in the COL8A2 gene (120252) on chromosome 1p34.3; PPCD3 (609141), caused by mutation in the ZEB1 gene (189909) on chromosome 10p; and PPCD4 (618031), caused by mutation in the GRHL2 gene (608576) on chromosome 8q22. [from OMIM]

MedGen UID:
87382
Concept ID:
C0339284
Disease or Syndrome
5.

Inhalational anthrax

spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. [from ORDO]

MedGen UID:
57841
Concept ID:
C0155866
Disease or Syndrome
6.

Corneal dystrophy

An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. [from HPO]

MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
7.

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
8.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
9.

Corneal disease

A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [from NCI]

MedGen UID:
3617
Concept ID:
C0010034
Disease or Syndrome
10.

Platelet-type bleeding disorder 17

Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014). [from OMIM]

MedGen UID:
396078
Concept ID:
C1861194
Disease or Syndrome
11.

Granular corneal dystrophy

A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. [from NCI]

MedGen UID:
42290
Concept ID:
C0018179
Disease or Syndrome
12.

Stromal corneal dystrophy

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. [from ORDO]

MedGen UID:
20973
Concept ID:
C0038457
Disease or Syndrome
13.

Hereditary eye tumor

MedGen UID:
799197
Concept ID:
CN200566
Disease or Syndrome
14.

Honey-droplet corneal dystrophy

A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss. [from ORDO]

MedGen UID:
799167
Concept ID:
CN207218
Disease or Syndrome
15.

Glycoprotein metabolism disease

MedGen UID:
575248
Concept ID:
C0342844
Disease or Syndrome
16.

Groenouw corneal dystrophy type I

Groenouw type I, or granular type I, corneal dystrophy is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994). [from OMIM]

MedGen UID:
351521
Concept ID:
C1641846
Disease or Syndrome
17.

Bothnia retinal dystrophy

Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. [from SNOMEDCT_US]

MedGen UID:
334499
Concept ID:
C1843816
Disease or Syndrome
18.

Posterior polymorphous corneal dystrophy 3

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. [from MONDO]

MedGen UID:
322978
Concept ID:
C1836724
Disease or Syndrome
19.

Cornea cancer

A primary or metastatic malignant neoplasm that affects the cornea. [from NCI]

MedGen UID:
102282
Concept ID:
C0153629
Neoplastic Process
20.

Cornea neoplasm

A benign or malignant neoplasm that affects the cornea. [from NCI]

MedGen UID:
90940
Concept ID:
C0339304
Neoplastic Process
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