ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Atelosteogenesis type III


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.87)	FLNB

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Atelosteogenesis type III
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - AO3 - AOIII

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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

No signs/symptoms info available.