JSON

autosomal dominant severe congenital neutropenia

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

Autosomal dominant form of severe congenital neutropenia. [ MONDO:patterns/autosomal_dominant ]

Term info

database cross reference
  • GARD:0009558 (MONDO:equivalentTo)
  • Orphanet:486 (OMIM:202700)
  • DOID:0112130 (MONDO:equivalentTo)
  • NCIT:C166155 (MONDO:equivalentTo)
  • UMLS:C1859966 (OMIM:202700)
Subsets

gard_rare, ordo_disease

definition

Autosomal dominant form of severe congenital neutropenia.

exactMatch

http://purl.obolibrary.org/obo/DOID_0112130, http://purl.obolibrary.org/obo/NCIT_C166155, http://purl.obolibrary.org/obo/Orphanet_486, http://linkedlifedata.com/resource/umls/id/C1859966

has exact synonym

severe congenital neutropenia, autosomal dominant

has related synonym

severe congenital neutropenia autosomal dominant

id

MONDO:0008742

seeAlso

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