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Intermittent hydrarthrosis
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
COG5-CDG
1 OMIM reference -
1 associated gene
No signs/symptoms info
Intermittent hydrarthrosis
COG5-CDG

MEFV
(UniProt - OMIM)
 COG5
(UniProt - OMIM)
TNFRSF1A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MEFV
(0.63)
COG5


Citations in the biomedical literature:


Intermittent hydrarthrosis
MEFV TNFRSF1A
COG5-CDG
COG5



Intermittent hydrarthrosis
COG5-CDG

Synonym(s):
(no synonyms)

Synonym(s):
- CDG syndrome type IIi
- CDG-IIi
- CDG2I
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type IIi
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.