ODCs

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1 OMIM reference -
3 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
10 signs/symptoms

Brachydactyly type A2

Multiple epiphyseal dysplasia, Beighton type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.79)	COL2A1

Citations in the biomedical literature:

Brachydactyly type A2		Multiple epiphyseal dysplasia, Beighton type
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy 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: 1 OMIM reference - 1 MeSH reference: C537089		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly

Brachydactyly type A2		Multiple epiphyseal dysplasia, Beighton type
	Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia		Very frequent - Absent / small fingernails / anonychia of hands - Conductive deafness / hearing loss - Epiphyseal anomaly - Flat face - Microstomia / little mouth - Myopia - Round face Frequent - Cataract / lens opacification