loading...| Preferred Name |
ELASTASE, NEUTROPHIL-EXPRESSED |
|
| Synonyms |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/130130 |
|
| altLabel |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT ELANE HNE ELA2 MEDULLASIN HLE ELASTASE, NEUTROPHIL NE CYCLIC NEUTROPENIA ELASTASE 2 ELASTASE, LEUKOCYTE PROTEASE, SERINE, BONE MARROW |
|
| cui |
C1414369 C1859966 C0221023 |
|
| Gene Locus |
19p13.3 |
|
| Gene Symbol |
ELA2 ELANE SCN1 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/130130.0011 http://purl.bioontology.org/ontology/OMIM/130130.0010 http://purl.bioontology.org/ontology/OMIM/130130.0007 http://purl.bioontology.org/ontology/OMIM/130130.0003 http://purl.bioontology.org/ontology/OMIM/130130.0009 http://purl.bioontology.org/ontology/OMIM/130130.0005 http://purl.bioontology.org/ontology/OMIM/130130.0008 http://purl.bioontology.org/ontology/OMIM/130130.0001 http://purl.bioontology.org/ontology/OMIM/130130.0004 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| Moved from |
155250 |
|
| notation |
130130 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
ELASTASE, NEUTROPHIL-EXPRESSED |
|
| tui |
T047 T028 |