Proteasome-associated autoinflammatory syndrome 4

Preferred Label : Proteasome-associated autoinflammatory syndrome 4;

Symbol : PRAAS4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619183;

Details

Origin ID

619183;

UMLS CUI

C5543053;

Genes related to phenotype
- Proteasome assembly chaperone 2 [OMIM gene]
HPO term(s)
- Acute phase response [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Delayed speech and language development [HPO term]
- Edema [HPO term]
- Erythema [HPO term]
- Flexion contracture [HPO term]
- Generalized lipodystrophy [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Lymphadenopathy [HPO term]
- Motor delay [HPO term]
- Myositis [HPO term]
- Panniculitis [HPO term]
- Recurrent fever [HPO term]
- Skeletal muscle atrophy [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) :

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