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Results: 1 to 20 of 27

1.

Choroideremia

Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in carrier females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be observed with careful fundus examination. These signs become more readily apparent after the second decade. [from GeneReviews]

MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
2.

Choroideremia

MedGen UID:
504743
Concept ID:
CN001071
Finding
3.

Hypertrophy

General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA). [from MeSH]

MedGen UID:
5703
Concept ID:
C0020564
Pathologic Function
4.

Rapidly involuting congenital hemangioma

MedGen UID:
832787
Concept ID:
CN199499
Congenital Abnormality
5.

Photoreceptor degeneration

MedGen UID:
745042
Concept ID:
C1998028
Disease or Syndrome
6.

Retinal thickening

MedGen UID:
724252
Concept ID:
C1302690
Sign or Symptom
7.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
8.

HYDATIDIFORM MOLE, RECURRENT, 1

MedGen UID:
483038
Concept ID:
C3463897
Disease or Syndrome
9.

Abnormality of the retina

An abnormality of the retina. [from HPO]

MedGen UID:
427807
Concept ID:
CN000447
Finding
10.

Hydatidiform mole, recurrent, 2

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090). [from OMIM]

MedGen UID:
195706
Concept ID:
C0678213
Neoplastic Process
11.

Hypopigmentation disorder

A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. [from MeSH]

MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
12.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
13.

Stress

Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress:: -Routine stress related to the pressures of work, family, and other daily responsibilities. -Stress brought about by a sudden negative change, such as losing a job, divorce, or illness. -Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
20971
Concept ID:
C0038435
Finding
14.

Retinaldehyde

A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration. [from MeSH]

MedGen UID:
19764
Concept ID:
C0035331
Pharmacologic Substance
15.

Tissue Degeneration

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
16.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
17.

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
18.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
19.

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
20.

Disorder of uveal tract

condition in which there is a deviation from or interruption of the normal structure or function of the uvea, the pigmented vascular coat of the eyeball. [from CRISP]

MedGen UID:
21804
Concept ID:
C0042161
Disease or Syndrome

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