ODCs

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1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1

3 OMIM references -
3 associated genes
12 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1 COL2A1	(0.75) (0.62) (0.52)	COL9A1 COL9A3 COL9A2

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Multiple epiphyseal dysplasia due to collagen 9 anomaly
	Synonym(s): - OSMED		Synonym(s): (no synonyms)

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

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Otospondylomegaepiphyseal dysplasia		Multiple epiphyseal dysplasia due to collagen 9 anomaly
	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 - 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		Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Genu valgum - Genu varum