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loading...| Preferred Name |
Candidiasis familial chronic mucocutaneous, autosomal recessive |
| Synonyms |
Candidiasis, Familial Chronic Mucocutaneous |
| ID |
http://purl.bioontology.org/ontology/MESH/C537979 |
| altLabel |
Candidiasis, Familial Chronic Mucocutaneous CARD9 immunodeficiency CARD9 deficiency Candidiasis, Familial, Type 4 CANDF4 Familial chronic mucocutaneous candidiasis CANDF2 Candidiasis, Familial, 2 Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive |
| cui |
C1859353 C0341024 |
| HM |
D002178 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
21 |
| MMR |
20190125 |
| notation |
C537979 |
| prefLabel |
Candidiasis familial chronic mucocutaneous, autosomal recessive |
| SC |
3 |
| Scope Statement |
mutations in CLEC7A (CANDF4) and CARD9 (CANDF2) genes |
| TERMUI |
T744340 T000950819 T000950820 T801445 T807557 T823102 T807558 T823103 T744339 T823752 |
| TH |
ORD (2010) OMIM (2013) NLM (2019) |
| tui |
T047 |
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