Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

autosomal dominant severe congenital neutropenia

Synonyms

severe congenital neutropenia autosomal dominant

severe congenital neutropenia, autosomal dominant

Definitions

Autosomal dominant form of severe congenital neutropenia.

ID

http://purl.obolibrary.org/obo/MONDO_0008742

database_cross_reference

UMLS:C4749612

NCIT:C166155

Orphanet:486

DOID:0112130

GARD:9558

definition

Autosomal dominant form of severe congenital neutropenia.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C166155

http://linkedlifedata.com/resource/umls/id/C4749612

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

http://purl.obolibrary.org/obo/Orphanet_486

has_exact_synonym

severe congenital neutropenia, autosomal dominant

has_related_synonym

severe congenital neutropenia autosomal dominant

id

MONDO:0008742

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease

label

autosomal dominant severe congenital neutropenia

notation

MONDO:0008742

preferred label

autosomal dominant severe congenital neutropenia

prefLabel

autosomal dominant severe congenital neutropenia

see also

https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0018542

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