loading...| Preferred Name |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
| Synonyms |
SCID Due to ADA Deficiency, Delayed Onset |
| ID |
http://purl.bioontology.org/ontology/MESH/C531816 |
| altLabel |
SCID Due to ADA Deficiency, Delayed Onset Partial adenosine deaminase deficiency SCID Due to ADA Deficiency, Late-Onset Adenosine Deaminase Deficiency, Partial Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Bubble boy disease Partial ADA Deficiency ADA Deficiency Severe combined immunodeficiency, alymphocytotic type Adenosine deaminase-deficient severe combined immunodeficiency disease SCID Due to ADA Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Agammaglobulinemia, Swiss type Adenosine deaminase deficiency ADA-SCID SCID1 Delayed-Late-Onset Adenosine Deaminase Deficiency SCID Due to ADA Deficiency, Early-Onset |
| cui |
C1863239 C0392607 C0268124 |
| HM |
D000361 D016511 |
| II |
D000243/Q000172 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
178 |
| MMR |
20221102 |
| notation |
C531816 |
| prefLabel |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
| SC |
3 |
| Scope Statement |
Inherited ADA deficiency resulting in immunodeficiency. It accounts for 15 % of SCID cases in infancy. Partial ADA deficiency may occur in some immunocompetent patients, who show decreased enzyme activity in erythrocytes, but retain sufficient enzyme activity in leukocytes and other nucleated cells. OMIM: 102700 |
| TERMUI |
T832268 T808271 T727545 T844691 T832235 T727546 T832233 T727544 T832234 T727543 T844690 T753570 T745141 T753571 T840827 T727547 T840826 T824664 T832236 |
| TH |
NLM (2013) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |