ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Autosomal dominant macrothrombocytopenia

Multiple epiphyseal dysplasia, Beighton type


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

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Multiple epiphyseal dysplasia, Beighton type
	Synonym(s): (no synonyms)		Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness

	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: <1 / 1 000 000 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

Multiple epiphyseal dysplasia, Beighton type
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Conductive deafness / hearing loss - Epiphyseal anomaly - Flat face - Microstomia / little mouth - Myopia - Round face - Short hand / brachydactyly Frequent - Cataract / lens opacification
Autosomal dominant macrothrombocytopenia
(no data available)