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Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1

Atelosteogenesis type III

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

Otospondylomegaepiphyseal dysplasia

Atelosteogenesis type III

COL11A2	(UniProt - OMIM)		FLNB	(UniProt - OMIM)
COL2A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.63)	FLNB

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Atelosteogenesis type III
	Synonym(s): - OSMED		Synonym(s): - AO3 - AOIII

	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 - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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 recessive		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

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

Otospondylomegaepiphyseal dysplasia
	Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication
Atelosteogenesis type III
(no data available)