Specific granule deficiency 2

Preferred Label : Specific granule deficiency 2;

Symbol : SGD2;

CISMeF acronym : SGD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2 gene (SMARCD2, 601736.0001);

Prefixed ID : #617475;

Details

Origin ID

617475;

UMLS CUI

C4479548;

Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent neutrophil specific granules [HPO term]
- Acanthosis nigricans [HPO term]
- Amelogenesis imperfecta [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow maturation arrest [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- Conical tooth [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Delayed umbilical cord separation [HPO term]
- Failure to thrive [HPO term]
- Fragile nails [HPO term]
- Global developmental delay [HPO term]
- Hirsutism [HPO term]
- Hyperextensible skin [HPO term]
- Intractable diarrhea [HPO term]
- Low-set ears [HPO term]
- Myelodysplasia [HPO term]
- Nail dysplasia [HPO term]
- Neonatal omphalitis [HPO term]
- Neutropenia [HPO term]
- Osteopenia [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Sandal gap [HPO term]
- Sepsis [HPO term]
- Simple ear [HPO term]
- Thrombocytopenia [HPO term]
- Tooth malposition [HPO term]
ORDO concept(s)
- Recurrent infection due to specific granule deficiency [ORDO Disease]
See also inter- (CISMeF)
- Recurrent infection due to specific granule deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients