U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 4

1.

Immunodeficiency 25

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. [from MONDO]

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
2.

Reynolds syndrome

An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. [from SNOMEDCT_US]

MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
3.

Autoinflammatory disease, systemic, with vasculitis

Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis). [from OMIM]

MedGen UID:
1841161
Concept ID:
C5830525
Disease or Syndrome
4.

Antimitochondrial antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. [from HPO]

MedGen UID:
866704
Concept ID:
C4021051
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...