Proteasome-associated autoinflammatory syndrome 5

Preferred Label : Proteasome-associated autoinflammatory syndrome 5;

Symbol : PRAAS5;

Type : Phenotype, molecular basis known;

Prefixed ID : #619175;

Details

Origin ID

619175;

UMLS CUI

C5543027;

Genes related to phenotype
- Proteasome 20s subunit, beta-type, 10 [OMIM gene]
HPO term(s)
- Acute phase response [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive in infancy [HPO term]
- Fever [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Neonatal onset [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Proteasome-associated autoinflammatory syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients