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loading...| Preferred Name |
Complement component 5 deficiency |
| Synonyms |
Dysfunction of the fifth component of complement (C5) |
| ID |
http://purl.bioontology.org/ontology/MESH/C537005 |
| altLabel |
Dysfunction of the fifth component of complement (C5) Leiner disease |
| cui |
C0343047 C5551904 |
| Has mapping qualifier | |
| HM |
D003182/Q000172 D000081208 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
121 |
| MMR |
20211129 |
| notation |
C537005 |
| PI |
IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019) |
| prefLabel |
Complement component 5 deficiency |
| SC |
3 |
| Scope Statement |
Dysfunction of complement 5 due to homozygous or compound heterozygous mutation in the C5 gene and characterized by SEBORRHEIC DERMATITIS, intractable diarrhea, GRAM-NEGATIVE BACTERIAL INFECTIONS, and severe wasting. OMIM: 609536 |
| TERMUI |
T001114317 T741153 T741151 |
| TH |
NLM (2022) ORD (2010) OMIM (2013) |
| tui |
T047 |
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