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Intermittent hydrarthrosis
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
DDOST-CDG
1 OMIM reference -
1 associated gene
No signs/symptoms info
Intermittent hydrarthrosis
DDOST-CDG

MEFV
(UniProt - OMIM)
 DDOST
(UniProt - OMIM)
TNFRSF1A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TNFRSF1A
(0.72)
DDOST


Citations in the biomedical literature:


Intermittent hydrarthrosis
MEFV TNFRSF1A
DDOST-CDG
DDOST



Intermittent hydrarthrosis
DDOST-CDG

Synonym(s):
(no synonyms)

Synonym(s):
- CDG syndrome type Ir
- CDG-Ir
- CDG1R
- Carbohydrate deficient glycoprotein syndrome type Ir
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type Ir
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: unknown
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.