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Atelosteogenesis type I

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

PROTEIN INTERACTIONS: 1

Chronic intestinal pseudoobstruction

4 OMIM references -
1 associated gene
6 signs/symptoms

Atelosteogenesis type I

Chronic intestinal pseudoobstruction

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.95)	FLNA

Citations in the biomedical literature:

Atelosteogenesis type I		Chronic intestinal pseudoobstruction
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - CIPO

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the digestive system -

	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: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 4 OMIM references - No MeSH references

Chronic intestinal pseudoobstruction
	Very frequent - Intestinal / colonic anomaly Frequent - Gastric / pyloric stenosis - Intestinal / gut / bowel malrotation - Structural anomalies of the nervous system Occasional - Patent ductus arteriosus - Platelets shape anomalies
Atelosteogenesis type I
(no data available)