Specific granule deficiency 1

Preferred Label : Specific granule deficiency 1;

Symbol : SGD1;

CISMeF acronym : SGD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactoferrin-deficient neutrophils; Neutrophil lactoferrin deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #245480;

Details

Origin ID

245480;

UMLS CUI

C4551556;

Automatic exact mappings (from CISMeF team)
- Neutrophil lactoferrin deficiency (disorder) [SNOMED CT concept]
- SGD ID [EDAM data]
- nucleolar protein with MIF4G domain 1 [HGNC gene]
- succinylglutamate desuccinylase activity [GO term]
Currated CISMeF NLP mapping
- specific granule deficiency [Disease (Nov.)]
Genes related to phenotype
- Ccaat/enhancer-binding protein, epsilon [OMIM gene]
HPO term(s)
- Absent neutrophil lactoferrin [HPO term]
- Absent neutrophil specific granules [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyposegmentation of neutrophil nuclei [HPO term]
- Impaired neutrophil bactericidal activity [HPO term]
- Increased neutrophil mitochondria [HPO term]
- Increased neutrophil ribosomes [HPO term]
- Low neutrophil alkaline phosphatase [HPO term]
- Neutrophil nuclear clefts [HPO term]
- Recurrent bacterial infections [HPO term]
Not associated HPO term(s)
- Abnormal neutrophil count [HPO term]
ORDO concept(s)
- Recurrent infection due to specific granule deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutrophil lactoferrin deficiency (disorder) [SNOMED CT concept]
- Recurrent infection due to specific granule deficiency [ORDO Disease]
- Specific granule deficiency (disorder) [SNOMED CT concept]
- specific granule deficiency [MeSH Supplementary Concept]
- specific granule deficiency [MeSH concept]
- specific granule deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Recurrent infection due to specific granule deficiency [ICD-11 More detail]
- Recurrent infection due to specific granule deficiency [ORDO Disease]
- Specific granule deficiency (disorder) [SNOMED CT concept]
- specific granule deficiency [Disease (Nov.)]
- specific granule deficiency [MeSH concept]
- specific granule deficiency [MeSH Supplementary Concept]

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