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Items: 9

1.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life - otherwise the term reduced visual acuity should be used (or a subclass of that). [from HPO]

MedGen UID:
784038
Concept ID:
C3665386
Finding
2.

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]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
3.

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
4.

Corneal opacity

A reduction of corneal clarity. [from HPO]

MedGen UID:
40485
Concept ID:
C0010038
Finding
5.

Macular corneal dystrophy, type II

MedGen UID:
305576
Concept ID:
C1691013
Disease or Syndrome
6.

Corneal Dystrophy, Dominant

MedGen UID:
893608
Concept ID:
CN239349
Disease or Syndrome
7.

Visual acuity no light perception

MedGen UID:
617771
Concept ID:
C0442774
Laboratory or Test Result
8.

Groenouw corneal dystrophy type I

MedGen UID:
351521
Concept ID:
C1641846
Disease or Syndrome
9.

Reis-Bucklers corneal dystrophy

MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
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