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loading...| Preferred Name |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT |
|
| Synonyms |
SCN1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/202700 |
|
| altLabel |
SCN1 |
|
| cui |
C1859966 |
|
| Gene Locus |
19p13.3 |
|
| Gene Symbol |
ELA2 ELANE SCN1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU041697 http://purl.bioontology.org/ontology/OMIM/MTHU041699 http://purl.bioontology.org/ontology/OMIM/MTHU041695 http://purl.bioontology.org/ontology/OMIM/MTHU041696 http://purl.bioontology.org/ontology/OMIM/MTHU041698 http://purl.bioontology.org/ontology/OMIM/MTHU008388 http://purl.bioontology.org/ontology/OMIM/MTHU020418 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
202700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT |
|
| Scope Statement |
Onset in infancy [MISCELLANEOUS] Caused by mutation in the neutrophil-expressed elastase gene (ELANE, 130130.0006) [MOLECULAR BASIS] |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565969 | MESH | CUI | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | DOVES | LOOM | |
| http://identifiers.org/omim/202700 | REXO | LOOM | |
| http://identifiers.org/omim/202700 | GEXO | LOOM | |
| http://identifiers.org/omim/202700 | RETO | LOOM |