loading...| Preferred Name |
severe combined immunodeficiency |
|
| Synonyms |
SCID |
|
| Definitions |
group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1560-6660 |
|
| altLabel |
SCID reticular dysgenesis adenosine deaminase deficiency combined T and B cell inborn immunodeficiency bare lymphocyte syndrome |
|
| cui |
C0272167 C0085110 C0268124 C0242583 |
|
| definition |
group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase. |
|
| DID |
1560-6660 |
|
| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1560-6660 |
|
| prefLabel |
severe combined immunodeficiency |
|
| tui |
T047 |
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| subClassOf |