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Items: 13

1.

Arthritis

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
2.

Rheumatoid arthritis

MedGen UID:
504816
Concept ID:
CN001255
Finding
3.

Rheumatoid arthritis

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
4.

Infantile Parkinsonism-dystonia

SLC6A3- related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood).Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development.Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown. [from GeneReviews]

MedGen UID:
413468
Concept ID:
C2751067
Disease or Syndrome
5.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
6.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
7.

Polyarticular arthritis

MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
8.

Rheumatism

Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement. [from MeSH]

MedGen UID:
48447
Concept ID:
C0035435
Disease or Syndrome
9.

Rheumatoid nodulosis

MedGen UID:
19781
Concept ID:
C0035450
Acquired Abnormality
10.

Arthropathy

MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
11.

HLA-DR beta-Chains

Transmembrane proteins that form the beta subunits of the HLA-DR antigens. They are also referred to as the HLA-DR light chains. [from MeSH]

MedGen UID:
6866
Concept ID:
C0019765
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
12.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
13.

Connective tissue disorder

MedGen UID:
1098
Concept ID:
C0009782
Disease or Syndrome
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