Disease association ontology term - MONDO:0015134 - constitutional neutropenia
Term summary
ID
MONDO:0015134
Name
constitutional neutropenia
Ontology or CV name
Disease association
Definition
A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
Parents
is_a
neutropenia
is_a
congenital hematological disorder
Annotation
Disease association
MONDO:0008963
-
Chediak-Higashi syndrome
References:
PB_REF:0000003
Genes:
lvs1 (SPBC28E12.06c)
MONDO:0014118
-
congenital neutropenia-myelofibrosis-nephromegaly syndrome
References:
PB_REF:0000003
PB_REF:0000006
Genes:
pep7 (SPAC17G6.08)
vps45 (SPAC2G11.03c)
MONDO:0011997
-
Hermansky-Pudlak syndrome 2
References:
PB_REF:0000006
Genes:
apl6 (SPAC23H3.06)
MONDO:0957809
-
neutropenia, severe congenital, 10, autosomal recessive
References:
PB_REF:0000006
Genes:
srp68 (SPCC1682.05c)
MONDO:0958017
-
neutropenia, severe congenital, 11, autosomal dominant
References:
PB_REF:0000006
Genes:
sec61 (SPBC354.02c)
ssh1 (SPBC19G7.17)
MONDO:0980936
-
neutropenia, severe congenital, 12, autosomal recessive
References:
PB_REF:0000006
Genes:
ret3 (SPCC576.07)
MONDO:0032899
-
neutropenia, severe congenital, 8, autosomal dominant
References:
PB_REF:0000006
Genes:
srp54 (SPCC188.06c)
MONDO:0030726
-
neutropenia, severe congenital, 9, autosomal dominant
References:
PB_REF:0000003
Genes:
aqp1 (SPAC977.17)
MONDO:0011405
-
poikiloderma with neutropenia
References:
PB_REF:0000006
PMID:23022480
Genes:
mpn1 (SPAC23C11.10)
MONDO:0012559
-
primary immunodeficiency syndrome due to p14 deficiency
References:
PB_REF:0000006
Genes:
lam2 (SPBC1778.05c)
MONDO:0018542
-
severe congenital neutropenia
References:
PB_REF:0000003
Genes:
vps45 (SPAC2G11.03c)
MONDO:0010294
-
X-linked severe congenital neutropenia
References:
PB_REF:0000006
Genes:
wsp1 (SPAC4F10.15c)
