Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

autosomal dominant severe congenital neutropenia

Synonyms
Definitions

A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.

ID

http://purl.obolibrary.org/obo/DOID_0112130

database_cross_reference

GARD:9558

ORDO:486

definition

A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0112130

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

autosomal dominant severe congenital neutropenia

notation

DOID:0112130

note

A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.

preferred label

autosomal dominant severe congenital neutropenia

prefLabel

autosomal dominant severe congenital neutropenia

textual definition

A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050590

http://purl.obolibrary.org/obo/DOID_0050736

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