loading...| Preferred Name | Neutropenia, Severe Congenital, Autosomal Recessive 3 | |
| Synonyms |
Agranulocytosis, Infantile Kostmann disease Kostmann syndrome Kostmann's Syndrome Infantile genetic agranulocytosis Congenital Neutropenia Autosomal dominant or sporadic congenital neutropenia Severe Infantile Genetic Neutropenia Agranulocytosis, infantile genetic Kostmann's Agranulocytosis Severe congenital neutropenia Congenital Agranulocytosis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537592 |
|
| altLabel |
Agranulocytosis, Infantile Kostmann disease Kostmann syndrome Kostmann's Syndrome Infantile genetic agranulocytosis Congenital Neutropenia Autosomal dominant or sporadic congenital neutropenia Severe Infantile Genetic Neutropenia Agranulocytosis, infantile genetic Kostmann's Agranulocytosis Severe congenital neutropenia Congenital Agranulocytosis |
|
| cui |
C5235141 C0340970 |
|
| Has mapping qualifier | ||
| HM |
D009503/Q000151 D000080984 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
224 |
|
| MMR |
20190617 |
|
| notation |
C537592 |
|
| prefLabel |
Neutropenia, Severe Congenital, Autosomal Recessive 3 |
|
| SC |
3 |
|
| Scope Statement |
Hematopoiesis disorders characterized by a maturation arrest of PROMYELOCYTES during granulopoiesis; peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe BACTERIAL INFECTIONS. Dominant mutations in the ELANE gene that result in a form of severe congenital neutropenia (SCN1) have been identified in about 60% of patients of European or Middle Eastern descent. OMIM: 202700. Autosomal recessive mutations have been identified in the HAX1 gene in SCN3/ Kostmann Disease (OMIM: 610738) |
|
| TERMUI |
T806313 T743103 T806315 T842440 T743104 T743106 T743107 T842436 T743105 T842437 T842439 T842438 T743101 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |