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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613790
http://purl.bioontology.org/ontology/OMIM/613790
|
|---|---|
| Preferred Name | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I |
| Synonyms |
C8 ALPHA-GAMMA DEFICIENCY
C8D1
C8 DEFICIENCY, TYPE I
C8AG DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
C8 ALPHA-GAMMA DEFICIENCY
C8D1
C8 DEFICIENCY, TYPE I
C8AG DEFICIENCY
|
|---|---|
| prefLabel | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
|
| Gene Symbol | C8A
|
| Scope Statement | Caused by mutation in the complement component-8, alpha polypeptide gene (C8A, 120950.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 1p32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613790
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151081
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |