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Items: 1 to 20 of 21

1.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
2.

Corneal dystrophy

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

MedGen UID:
504738
Concept ID:
CN001063
Finding
3.

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
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.

Multicentric plasma cell variant of Castleman disease

MedGen UID:
762089
Concept ID:
C3541461
Finding
6.

Fragility

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

Malformation of cortical development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. [from MeSH]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
8.

Macular corneal dystrophy Type I

Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from OMIM]

MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
9.

Multicentric Angiofollicular Lymphoid Hyperplasia

A form of angiofollicular lymphoid hyperplasia characterized by fever, generalized lymphadenopathy, hypergammaglobulinemia, and dysfunction of multiple organs. Other signs and symptoms include anemia, thrombocytopenia, hepatomegaly, peripheral neuropathy and pleural effusions. Morphologically, in the majority of cases the lymph nodes show features of angiofollicular lymphoid hyperplasia of the plasma cell type. In a minority of cases, changes of angiofollicular lymphoid hyperplasia of the hyaline-vascular type are seen. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma, or lymphoma. [from NCI]

MedGen UID:
233197
Concept ID:
C1334815
Neoplastic Process
10.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
11.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
12.

Macular corneal dystrophy

A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate. [from NCI]

MedGen UID:
44239
Concept ID:
C0024439
Disease or Syndrome
13.

Multiple carboxylase deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. [from MeSH]

MedGen UID:
10119
Concept ID:
C0026755
Disease or Syndrome
14.

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
15.

Disorder of eye

Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include. -Refractive errors. -Cataracts - clouded lenses. -Glaucoma - a disorder caused by damage to the optic nerve. -Retinal disorders - problems with the nerve layer at the back of the eye. -Macular degeneration - a disease that destroys sharp, central vision. -Diabetic eye problems. -Conjunctivitis - an infection also known as pinkeye. Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute .  [from MedlinePlus]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
16.

Hereditary corneal dystrophy

Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. [from MeSH]

MedGen UID:
3618
Concept ID:
C0010035
Disease or Syndrome
17.

Disorder of cornea

Your cornea is the outermost layer of your eye. It is clear and shaped like a dome. The cornea helps to shield the rest of the eye from germs, dust, and other harmful matter. It also helps your eye to focus. If you wear contact lenses, they float on top of your corneas. . Problems with the cornea include. -Refractive errors. -Allergies. -Infections. -Injuries. -Dystrophies - conditions in which parts of the cornea lose clarity due to a buildup of cloudy material. Treatments of corneal disorders include medicines, corneal transplantation, and corneal laser surgery. NIH: National Eye Institute.  [from MedlinePlus]

MedGen UID:
3617
Concept ID:
C0010034
Disease or Syndrome
18.

Macular corneal dystrophy, type II

MedGen UID:
305576
Concept ID:
C1691013
Disease or Syndrome
19.

Corneal Dystrophy, Dominant

MedGen UID:
893608
Concept ID:
CN239349
Disease or Syndrome
20.

Dystrophy of anterior cornea

MedGen UID:
746687
Concept ID:
C2315777
Disease or Syndrome
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