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

Atelosteogenesis type I

Constitutional mismatch repair deficiency syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	MLH1

Citations in the biomedical literature:

Atelosteogenesis type I		Constitutional mismatch repair deficiency syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - CMMR-D syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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		Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.