Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 8

1.

Progressive Encephalomyelitis with Rigidity

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
2.

Ligand Binding

Ligand Binding is the tight and specific (high affinity) interaction between a small molecule (typically) and a macromolecule (usually protein) that ordinarily results in modification of its function, e.g., antigen-antibody binding, hormone- or neurotransmitter-receptor binding. [from NCI]

MedGen UID:
309303
Concept ID:
C1517880
Molecular Function
3.

Becker muscular dystrophy

The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [from GTR]

MedGen UID:
182959
Concept ID:
C0917713
Disease or Syndrome
4.

Worth disease

MedGen UID:
140932
Concept ID:
C0432273
Disease or Syndrome
5.

Vitelliform macular dystrophy type 2

Best vitelliform macular dystrophy is a slowly progressive macular dystrophy with onset generally in childhood and sometimes in later teenage years. Affected individuals initially have normal vision followed by decreased central visual acuity and metamorphopsia. Individuals retain normal peripheral vision and dark adaptation. Age of onset and severity of vision loss show inter- and intrafamilial variability. [from GTR]

MedGen UID:
137920
Concept ID:
C0339510
Disease or Syndrome
6.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
7.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
8.

Phenotype modifier, association with

MedGen UID:
834023
Concept ID:
CN231070
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center