loading...| Preferred Name |
COMPLEMENT COMPONENT 1 INHIBITOR |
| Synonyms |
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR |
| ID |
http://purl.bioontology.org/ontology/OMIM/606860 |
| altLabel |
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR C1NH C1I SERPING1 ANGIOEDEMA, HEREDITARY, AUTOSOMAL RECESSIVE C1INH SERPIN PEPTIDASE INHIBITOR, CLADE G, MEMBER 1 ANGIOEDEMA, HEREDITARY, TYPE II ANGIOEDEMA, HEREDITARY, TYPE I |
| cui |
C1862892 C2717906 C1412922 C4016986 C4016987 |
| Gene Locus |
11q11-q13.1 |
| Gene Symbol |
C1NH HAE2 SERPING1 HAE1 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/606860.0002 http://purl.bioontology.org/ontology/OMIM/606860.0003 http://purl.bioontology.org/ontology/OMIM/606860.0004 http://purl.bioontology.org/ontology/OMIM/606860.0008 http://purl.bioontology.org/ontology/OMIM/606860.0009 http://purl.bioontology.org/ontology/OMIM/606860.0012 http://purl.bioontology.org/ontology/OMIM/606860.0011 http://purl.bioontology.org/ontology/OMIM/606860.0013 http://purl.bioontology.org/ontology/OMIM/606860.0014 http://purl.bioontology.org/ontology/OMIM/606860.0001 http://purl.bioontology.org/ontology/OMIM/606860.0006 http://purl.bioontology.org/ontology/OMIM/606860.0005 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
606860 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
COMPLEMENT COMPONENT 1 INHIBITOR |
| tui |
T028 T033 T047 |