loading...| Preferred Name |
Autoimmune polyendocrinopathy syndrome, type 1 |
|
| Synonyms |
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538275 |
|
| altLabel |
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant Polyglandular Deficiency Syndrome, Persian-Jewish Type Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Autoimmune polyendocrine syndrome, type 1 Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis |
|
| cui |
C1855869 C1855868 C2749602 C3494489 |
|
| HM |
D016884 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
75 |
|
| MMR |
20150817 |
|
| notation |
C538275 |
|
| prefLabel |
Autoimmune polyendocrinopathy syndrome, type 1 |
|
| SC |
3 |
|
| Scope Statement |
Disorder that is characterized by the presence of 2 of 3 major clinical symptoms: ADDISON DISEASE, and/or HYPOPARATHYROIDISM, and/or CHRONIC MUCOCUTANEOUS CANDIDIASIS. MALABSORPTION SYNDROMES and DIARRHEA are also common. Germline mutations in the AIRE gene have been identified. OMIM: 240300 |
|
| TERMUI |
T806871 T745280 T810758 T806870 T745283 T745282 T745284 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |