ODCs

Click node...

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Otospondylomegaepiphyseal dysplasia

Legg-CalvÃ©-Perthes disease

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A2	(0.52)	COL2A1

Citations in the biomedical literature:

Otospondylomegaepiphyseal dysplasia		Legg-CalvÃ©-Perthes disease
	Synonym(s): - OSMED		Synonym(s): - Aseptic necrosis of the capital femoral epiphysis - Osteochondritis of the capital femoral epiphysis - Osteochondrosis of the capital femoral epiphysis - Perthes disease

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

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

	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: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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

Otospondylomegaepiphyseal dysplasia		Legg-CalvÃ©-Perthes disease
	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		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Articular / joint pain / arthralgia - Cartilage destruction / chondrolysis - Delayed bone age - Joint / articular deformation - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteonecrosis / bone infarction - Polygenic / multifactorial inheritance - Short stature / dwarfism / nanism