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Items: 1 to 20 of 43

1.

Blindness

Blindness is the condition of lacking visual perception due to physiological or neurological factors. [from HPO]

MedGen UID:
99138
Concept ID:
C0456909
Finding
2.

Nyctalopia

An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder. [from NCI]

MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
3.

Leucine

An essential branched-chain amino acid important for hemoglobin formation. [from MeSH]

MedGen UID:
7312
Concept ID:
C0023401
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Complete congenital stationary night blindness

MedGen UID:
881697
Concept ID:
C4048798
Congenital Abnormality
5.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
6.

Congenital stationary night blindness

A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [from HPO]

MedGen UID:
506098
Concept ID:
CN006698
Finding
7.

Non-progressive

MedGen UID:
375034
Concept ID:
C1842864
8.

Congenital stationary night blindness, type 1A

X-linked congenital stationary night blindness (CSNB) is characterized by: non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Two overlapping, yet distinct, phenotypes are recognized: Complete CSNB (CSNB1A), caused by pathogenic variants in NYX (45%). Incomplete CSNB (CSNB2A), caused by pathogenic variants in CACNA1F (55%). [from GTR]

MedGen UID:
326921
Concept ID:
C1839601
9.

Congenital stationary night blindness

X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause and by the results of a test called an electroretinogram, which measures the function of the retina. [from GTR]

MedGen UID:
83289
Concept ID:
C0339535
Congenital Abnormality
10.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
11.

X-Linked Csnb

MedGen UID:
778151
Concept ID:
C3711543
Disease or Syndrome
12.

Blindness - both eyes

MedGen UID:
742290
Concept ID:
C1879328
Finding
13.

Separated from cohabitee

Indicates a person living apart from his/her spouse by legal arrangement. [from NCI]

MedGen UID:
88651
Concept ID:
C0086972
Finding
14.

Hereditary disease

Diseases caused by genetic mutations that are inherited from a parent's genome. [from MeSH]

MedGen UID:
5527
Concept ID:
C0019247
Disease or Syndrome
15.

Bipolar

MedGen UID:
912721
Concept ID:
CN244029
Finding
16.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
17.

Visual loss

Disturbance of eyesight. [from NCI]

MedGen UID:
784038
Concept ID:
C3665386
Finding
18.

Founder Mutation

A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. This phenomenon is often called a founder effect. [from NCI_NCI-GLOSS]

MedGen UID:
457661
Concept ID:
C2985435
Cell or Molecular Dysfunction
19.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
20.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
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