Disease association ontology term - MONDO:0018542 - severe congenital neutropenia

Term summary

ID: MONDO:0018542
Name: severe congenital neutropenia
Ontology or CV name: Disease association

Parents

is_a hereditary disease
is_a constitutional neutropenia

Annotation

Disease association

MONDO:0018542 - severe congenital neutropenia

References:

PB_REF:0000003

Genes:

vps45 (SPAC2G11.03c)

MONDO:0014118 - congenital neutropenia-myelofibrosis-nephromegaly syndrome

References:

Genes:

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:

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:0010294 - X-linked severe congenital neutropenia

References:

PB_REF:0000006

Genes:

wsp1 (SPAC4F10.15c)