ODCs

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3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Autosomal dominant macrothrombocytopenia

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGA2B	(0.85)	COL2A1

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.