ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
No signs/symptoms info

DDOST-CDG

Immunodeficiency by defective expression of HLA class 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DDOST	(0.76)	RFXANK

Citations in the biomedical literature:

DDOST-CDG		Immunodeficiency by defective expression of HLA class 2
	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		Synonym(s): - Bare lymphocyte syndrome type 2 - HLA class 2-negative severe combined immunodeficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.