Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SPECIFIC GRANULE DEFICIENCY 1

Synonyms

LACTOFERRIN-DEFICIENT NEUTROPHILS

ID

http://purl.bioontology.org/ontology/OMIM/245480

altLabel

LACTOFERRIN-DEFICIENT NEUTROPHILS

SGD1

NEUTROPHIL LACTOFERRIN DEFICIENCY

cui

C0398593

Gene Locus

14q11.2

Gene Symbol

CRP1

CEBPE

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

245480

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SPECIFIC GRANULE DEFICIENCY 1

tui

T047

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http://purl.bioontology.org/ontology/MESH/C562873 Medical Subject Headings CUI