Link to this page
Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C538275
http://purl.bioontology.org/ontology/MESH/C538275
|
|---|---|
| Preferred Name | Autoimmune polyendocrinopathy syndrome, type 1 |
| Synonyms |
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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
See more
See less
|
|---|---|
| prefLabel | Autoimmune polyendocrinopathy syndrome, type 1
|
| 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
|
| type | |
| tui | T047
|
| HM | D016884
|
| SC | 3
|
| TERMUI |
T806871
T745280
T810758
T806870
T745283
T745282
T745284
See more
See less
|
| TH |
OMIM (2013)
ORD (2010)
|
| MMR | 20150817
|
| notation | C538275
|
| Semantic type UMLS property | |
| cui |
C1855869
C0085859
C1855868
C2749602
|
| MeSH Frequency | 75
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |